Submissions for variant NM_004360.5(CDH1):c.1566-15C>A

gnomAD frequency: 0.00002  dbSNP: rs1064794178

Total submissions: 3

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
GeneDx	RCV000484082	SCV000568099	uncertain significance	not provided	2016-06-14	criteria provided, single submitter	clinical testing	This variant is denoted CDH1 c.1566-15C>A or IVS10-15C>A and consists of a C>A nucleotide substitution at the -15 position of intron 10 of the CDH1 gene. Multiple in silico models predict this variant to damage the nearby natural acceptor site, and to possibly cause abnormal gene splicing. However, in the absence of RNA or functional studies, the actual effect of this variant is unknown. This variant has not, to our knowledge, been published in the literature as pathogenic or benign. The cytosine (C) nucleotide that is altered is not conserved across species. Based on currently available information, it is unclear whether CDH1 c.1566-15C>A is pathogenic or benign. We consider it to be a variant of uncertain significance.
Color Diagnostics, LLC DBA Color Health	RCV001185548	SCV001351797	uncertain significance	Hereditary cancer-predisposing syndrome	2018-12-17	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV002056754	SCV002351801	likely benign	Hereditary diffuse gastric adenocarcinoma	2023-08-28	criteria provided, single submitter	clinical testing